Standout Papers
Citation Impact
Citing Papers
2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy
2014 Standout
2010 ACCF/AHA/AATS/ACR/ASA/SCA/SCAI/SIR/STS/SVM Guidelines for the Diagnosis and Management of Patients With Thoracic Aortic Disease
2010 Standout
Hippo signaling disruption and Akt stimulation of ovarian follicles for infertility treatment
2013 Standout
2014 AHA/ACC Guideline for the Management of Patients With Valvular Heart Disease
2014 Standout
Chromosome Abnormalities and Genetic Counseling
2011
2014 AHA/ACC Guideline for the Management of Patients With Valvular Heart Disease
2014 Standout
Primary Ovarian Insufficiency
2009
Breast cancer
2019 Standout
Intellectual impairment in neurofibromatosis 1
1996
Familial Pancreatic Cancer
2009
Reduced basal ganglia blood flow and volume in pre-symptomatic, gene-tested persons at-risk for Huntington's disease
1999
Pancreatic cancer
2004 Standout
Germline Variation in Cancer-Susceptibility Genes in a Healthy, Ancestrally Diverse Cohort: Implications for Individual Genome Sequencing
2014
Microsatellite Instability in Colorectal Cancer
2010 Standout
Autosomal dominant optic nerve colobomas, vesicoureteral reflux, and renal anomalies
1995
The contribution of <i>cis</i>-elements to disease-associated repeat instability: clinical and experimental evidence
2003
Elevated Risk for MPNST in NF1 Microdeletion Patients
2003
Huntington's disease
2007 Standout
Genetic Evaluation of Cardiomyopathy—A Heart Failure Society of America Practice Guideline
2009
Natural history of cardiovascular manifestations in Marfan syndrome
2001
Campomelic dysplasia and autosomal sex reversal caused by mutations in an SRY-related gene
1994 StandoutNature
Mendelian cytogenetics. Chromosome rearrangements associated with mendelian disorders.
1993
Deletion of the entire NF1 gene detected by FISH: Four deletion patients associated with severe manifestations
1995
Copper, iron and zinc in Alzheimer's disease senile plaques
1998 Standout
Applications of genome editing technology in the targeted therapy of human diseases: mechanisms, advances and prospects
2020 Standout
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
2015 Standout
Maternal Lyme borreliosis and pregnancy outcome
2009
Screening of High-Risk Families for Pancreatic Cancer
2009
Genomic characterization of the Neurofibromatosis Type 1 gene of Fugu rubripes
1998
Recurrent miscarriage: current concepts in diagnosis and treatment
2010
Public understandings of genetics and health
2009
Early Diagnosis and Treatment of Pancreatic Dysplasia in Patients with a Family History of Pancreatic Cancer
1999
Diagnosis and Treatment of Polycystic Ovary Syndrome: An Endocrine Society Clinical Practice Guideline
2013 Standout
Twenty-One Years of Experience With Minimally Invasive Repair of Pectus Excavatum by the Nuss Procedure in 1215 Patients
2010 Standout
Mutation of RET codon 768 is associated with the FMTC phenotype
1997
New Perspectives on the Prevalence of Hypertrophic Cardiomyopathy
2015 Standout
A prospective survey of patients with valvular heart disease in Europe: The Euro Heart Survey on Valvular Heart Disease
2003 Standout
Fugu: a compact vertebrate reference genome
2000 StandoutNobel
Points to Consider: Ethical, Legal, and Psychosocial Implications of Genetic Testing in Children and Adolescents
2015 Standout
Listening to silence and understanding nonsense: exonic mutations that affect splicing
2002 Standout
Milestones of Lynch syndrome: 1895–2015
2015
Mutations in PTPN11 implicate the SHP-2 phosphatase in leukemogenesis
2003
Generation and Analysis of 25 Mb of Genomic DNA from the Pufferfish Fugu rubripes by Sequence Scanning
1999 StandoutNobel
Genetic basis of Cowden syndrome and its implications for clinical practice and risk management
2016
Genetic counselling and testing in cardiomyopathies: a position statement of the European Society of Cardiology Working Group on Myocardial and Pericardial Diseases
2010
Surgical treatment of the dilated ascending aorta: when and how?
1999
Development of prenatal screening—A historical overview
2016
Characterization of three genes, AKAP84, BAW and WSB1, located 3′ to the Neurofibromatosis type 1 locus in Fugu rubripes
1999
Expert Consensus Document on the Treatment of Descending Thoracic Aortic Disease Using Endovascular Stent-Grafts
2008 Standout
Pancreatic Cancer
2010 Standout
Management of medullary thyroid carcinoma and MEN2 syndromes in childhood
2011
Impact of Informing Overweight Individuals about the Role of Genetics in Obesity: An Online Experimental Study
2013 Standout
Molecular diagnosis of neurofibromatosis type 1: 2 years experience
2006
Genetic factors in Alzheimer's disease: A review of recent advances
1996
Health Supervision for Children With Down Syndrome
2011 Standout
The PI3K Pathway in Human Disease
2017 Standout
Down syndrome
2020 Standout
Lyme borreliosis
2011 Standout
Renal cell carcinoma
2017 Standout
Mosaic Disorders of the PI3K/PTEN/AKT/TSC/mTORC1 Signaling Pathway
2016
Artificial intelligence in healthcare
2018 Standout
Amyotrophic Lateral Sclerosis
2001 Standout
Guidelines for the diagnosis and management of individuals with neurofibromatosis 1
2006 Standout
Clinician Perspectives about Molecular Genetic Testing for Heritable Conditions and Development of a Clinician-Friendly Laboratory Report
2009
Mutations affecting mRNA splicing are the most common molecular defects in patients with neurofibromatosis type 1
2000
DNA methylation and human disease
2005 Standout
Neurovascular pathways to neurodegeneration in Alzheimer's disease and other disorders
2011 Standout
Pancreatic cancer
2011 Standout
Genetics of Huntington disease
2017
Diagnosis and treatment of diseases of the aorta
1997
Identification of copy number variants in whole-genome data using Reference Coverage Profiles
2015 StandoutNobel
The value of cardiac genetic testing
2014
Family study of the inheritance of pectus excavatum
2006 Standout
Guidelines of the American Thyroid Association for the Diagnosis and Management of Thyroid Disease During Pregnancy and Postpartum
2011 Standout
Revised American Thyroid Association Guidelines for the Management of Medullary Thyroid Carcinoma
2015 Standout
2017 Guidelines of the American Thyroid Association for the Diagnosis and Management of Thyroid Disease During Pregnancy and the Postpartum
2017 Standout
Influence of Genetic Risk Information on Parental Role Identity in Adolescent Girls and Young Women from Families with Fragile X Syndrome
2011
Recommendations on the management of the asymptomatic patient with valvular heart disease
2002
2010 ACCF/AHA/AATS/ACR/ASA/SCA/SCAI/SIR/STS/SVM Guidelines for the Diagnosis and Management of Patients With Thoracic Aortic Disease
2010 Standout
ACC/AHA 2005 Practice Guidelines for the Management of Patients With Peripheral Arterial Disease (Lower Extremity, Renal, Mesenteric, and Abdominal Aortic)
2006 Standout
Early Eye Development in Vertebrates
2001 Standout
Molecular Basis of Genetic Heterogeneity: Role of the Clinical Neurologist
1998
The 2008 revision of the World Health Organization (WHO) classification of myeloid neoplasms and acute leukemia: rationale and important changes
2009 Standout
The Diagnostic Evaluation and Multidisciplinary Management of Neurofibromatosis 1 and Neurofibromatosis 2
1997 Standout
The adrenal gland: an evolution of the roles of genetic counsellors and medical geneticists in endocrine cancers
2016
2015 ESC Guidelines for the management of patients with ventricular arrhythmias and the prevention of sudden cardiac death
2015 Standout
DNA analysis of Huntington’s disease
1999
<p>A systematic review of international guidelines and recommendations for the genetic screening, diagnosis, genetic counseling, and treatment of <em>BRCA</em>-mutated breast cancer</p>
2019
ACC/AHA 2006 Guidelines for the Management of Patients With Valvular Heart Disease
2006 Standout
Aortic Diameter ≥5.5 cm Is Not a Good Predictor of Type A Aortic Dissection
2007
Associations Between Cancer Predisposition Testing Panel Genes and Breast Cancer
2017
Microsatellite Instability Detection by Next Generation Sequencing
2014
2020 ACC/AHA Guideline for the Management of Patients With Valvular Heart Disease: A Report of the American College of Cardiology/American Heart Association Joint Committee on Clinical Practice Guidelines
2020 Standout
The Unintended Implications of Blurring the Line Between Research and Clinical Care in a Genomic Age
2014
Von Hippel-Lindau Disease: Genetics and Role of Genetic Counseling in a Multiple Neoplasia Syndrome
2016
The Marfan Syndrome
2000
Somatic mosaicism in a patient with neurofibromatosis type 1.
1996
Next-Generation Sequencing in Oncology: Genetic Diagnosis, Risk Prediction and Cancer Classification
2017
Defining Early-Onset Kidney Cancer: Implications for Germline and Somatic Mutation Testing and Clinical Management
2013
2008 Focused Update Incorporated Into the ACC/AHA 2006 Guidelines for the Management of Patients With Valvular Heart Disease
2008 Standout
Screening for Pancreatic Cancer in High-Risk Individuals: A Call for Endoscopic Ultrasound
2009
Works of Robin L. Bennett being referenced
Genetic Counseling for Fragile X Syndrome: Updated Recommendations of the National Society of Genetic Counselors
2005
A mosaic PTEN mutation causing Cowden syndrome identified by deep sequencing
2013
Amoxicillin Pharmacokinetics in Pregnant Women: Modeling and Simulations of Dosage Strategies
2007
ColoSeq Provides Comprehensive Lynch and Polyposis Syndrome Mutational Analysis Using Massively Parallel Sequencing
2012
A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic Counselors: referral indications for cancer predisposition assessment
2014
Why do DNA testing? Practical and ethical implications of new neurogenetic tests
1995
Recommendations for returning genomic incidental findings? We need to talk!
2013
Recommendations for standardized human pedigree nomenclature. Pedigree Standardization Task Force of the National Society of Genetic Counselors.
1995
Essential Elements of Genetic Cancer Risk Assessment, Counseling, and Testing: Updated Recommendations of the National Society of Genetic Counselors
2011
Large de novo DNA deletion in a patient with sporadic neurofibromatosis 1, mental retardation, and dysmorphism.
1992
Aortic root complications in Marfan's syndrome: identification of a lower risk group.
1996
Recommendations for standardized human pedigree nomenclature
1995
Laboratory Guidelines for Huntington Disease Genetic Testing
1998
Genetic Disorders and the Fetus: Diagnosis, Prevention and Treatment.
2005
Familial pancreatic adenocarcinoma: association with diabetes and early molecular diagnosis.
1995
A New Definition of Genetic Counseling: National Society of Genetic Counselors’ Task Force Report
2006 Standout
Genetic Evaluation and Counseling of Couples with Recurrent Miscarriage: Recommendations of the National Society of Genetic Counselors
2005
Next Generation Sequencing in the Clinic: a Patterns of Care Study in a Retrospective Cohort of Subjects Referred to a Genetic Medicine Clinic for Suspected Lynch Syndrome
2015
Deletions spanning the neurofibromatosis 1 gene: identification and phenotype of five patients.
1994